title: Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study.
abstract: OBJECTIVE
  We sought to determine the usefulness of fragile X mental retardation 1 (FMR1) carrier testing among young infertile women with or without signs of ovarian insufficiency as compared with fertile women.
  
  
  METHODS
  Three cohorts of women were recruited to determine the cytosine-guanine-guanine (CGG) repeats trinucleotide repeat length in the 5'-untranslated region of the FMR1 gene in lymphocyte DNA. A total of 199 fertile women, who were reported to have conceived within 3 months, were recruited together with 372 infertile women with ongoing menstrual cycles and 48 infertile women with primary ovarian insufficiency. The various ranges of FMR1 CGG repeat lengths among infertile women were compared with those of fertile controls. In infertile women with ongoing menstrual cycles, the serum concentrations of follicle-stimulating hormone, anti-Muellerian hormone, and inhibin B were measured during the early follicular phase.
  
  
  RESULTS
  None of the three categories of FMR1 CGG repeat length expansions (premutation, intermediate range, and high normal range) were more prevalent among infertile women than among fertile women. The CGG repeat length was not correlated with any of the ovarian reserve parameters.
  
  
  CONCLUSIONS
  In comparison with a generalized preconception screening strategy, infertility as a criterion, even together with reduced ovarian reserve, is not suitable for identifying a higher proportion of women with expanded FMR1 CGG repeat length.
authors.affiliation: 1] Department of Biomedicine, Research Group on Gynecological Endocrinology, University Hospital, University of Basel, Basel, Switzerland [2] Clinic of Gynecological Endocrinology and Reproductive Medicine, University Hospital, University of Basel, Basel, Switzerland.
authors.forename: Christian
authors.initials: C
authors.lastname: De Geyter
authors.affiliation: Department of Biomedicine, Research Group on Gynecological Endocrinology, University Hospital, University of Basel, Basel, Switzerland.
authors.forename: Nadira
authors.initials: N
authors.lastname: M'Rabet
authors.affiliation: Department of Biomedicine, Research Group on Gynecological Endocrinology, University Hospital, University of Basel, Basel, Switzerland.
authors.forename: Julie
authors.initials: J
authors.lastname: De Geyter
authors.affiliation: Department of Biomedicine, Research Group on Human Genetics, University of Basel, Basel, Switzerland.
authors.forename: Stephan
authors.initials: S
authors.lastname: Zürcher
authors.affiliation: Clinic of Gynecological Endocrinology and Reproductive Medicine, University Hospital, University of Basel, Basel, Switzerland.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Moffat
authors.affiliation: Department of Biomedicine, Research Group on Human Genetics, University of Basel, Basel, Switzerland.
authors.forename: Nemya
authors.initials: N
authors.lastname: Bösch
authors.affiliation: Department of Biomedicine, Research Group on Gynecological Endocrinology, University Hospital, University of Basel, Basel, Switzerland.
authors.forename: Hong
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Biomedicine, Research Group on Human Genetics, University of Basel, Basel, Switzerland.
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D054304:Anti-Mullerian Hormone / Q000097:blood; D005260:Female; D005298:Fertility / Q000235:genetics; D005640:Follicle Stimulating Hormone / Q000097:blood; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D007265:Inhibins / Q000097:blood; D008214:Lymphocytes / Q000166:cytology; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D011446:Prospective Studies; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone; D051860:Fragile X Messenger Ribonucleoprotein 1; D007265:Inhibins; C497683:FMR1 protein, human; C422364:inhibin B